Description:
Trisomy 13, also called Patau syndrome, is a genetic disorder associated with the presence of extra material from chromosome 13.
Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all body cells.
- Trisomy 13 - the presence of extra (third) chromosome 13 in all cells.
- Trisomy 13 mosaicism - the existence of an extra chromosome 13 in some cells.
- Partial trisomy - the presence of an extra part of chromosome 13 in cells.
Additional materials interfere with normal development.
Symptom
- Cleft lip or palate into one
- Decreased muscle
- Extra fingers or toes (polydactyly)
- Hernias: umbilical hernia, inguinal hernia
- Holes, splits, or cracks in the iris (Coloboma)
- Mental retardation, severe
- Scalp defects (absent skin) scalp defects (absent skin)
- Seizures
- The folding of single palmar
- Abnormal Bone (limb)
- Small Eyes
- Small head (microcephaly)
- A small mandible (micrognathia)
- Cryptorchid
Treatment
Medical management of children with trisomy 13 was planned on a case-by-case basis and depends on the situation of each patient
Комментариев нет:
Отправить комментарий